November 26, 2018
John Millichap, MD, from Stanley Manne Children’s Research Institute, and colleagues from Baylor College of Medicine and Children’s National Medical Center in Washington, D.C., recently launched a new study called Early Recognition of Genetic Epilepsy in Neonates (ERGENT). This study provides free genetic testing to babies who have features suggestive of a genetically caused epilepsy, referred by medical professionals from anywhere in the United States. The study also will test new tools for identifying newborns at highest risk for this condition so that treatments targeting the precise genetic cause of each child’s epilepsy can be started as early as possible.
“Novel laboratory techniques are available for identifying compounds that treat a patient’s specific type of genetic epilepsy,” says Dr. Millichap. “Our group of collaborators is working to make early diagnosis and testing more available to maximize the potential benefits of these new treatments.”
ERGENT is funded by the Jack Pribaz Foundation, the KCNQ2 Cure Alliance and the FamilieSCN2A Foundation – all nonprofit organizations led by parents of children with neonatal onset genetic epilepsies.